Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure. J Clin Immunol 2017
Times Cited: 22
Times Cited: 22
Times Cited
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Similarity
The diagnostic approach to monogenic very early onset inflammatory bowel disease.
Holm H Uhlig, Tobias Schwerd, Sibylle Koletzko, Neil Shah, Jochen Kammermeier, Abdul Elkadri, Jodie Ouahed, David C Wilson, Simon P Travis, Dan Turner,[...]. Gastroenterology 2014
Holm H Uhlig, Tobias Schwerd, Sibylle Koletzko, Neil Shah, Jochen Kammermeier, Abdul Elkadri, Jodie Ouahed, David C Wilson, Simon P Travis, Dan Turner,[...]. Gastroenterology 2014
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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Erik-Oliver Glocker, Daniel Kotlarz, Kaan Boztug, E Michael Gertz, Alejandro A Schäffer, Fatih Noyan, Mario Perro, Jana Diestelhorst, Anna Allroth, Dhaarini Murugan,[...]. N Engl J Med 2009
Erik-Oliver Glocker, Daniel Kotlarz, Kaan Boztug, E Michael Gertz, Alejandro A Schäffer, Fatih Noyan, Mario Perro, Jana Diestelhorst, Anna Allroth, Dhaarini Murugan,[...]. N Engl J Med 2009
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Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency.
Dror S Shouval, Amlan Biswas, Yu Hui Kang, Alexandra E Griffith, Liza Konnikova, Ivan D Mascanfroni, Naresh S Redhu, Sandra M Frei, Michael Field, Andria L Doty,[...]. Gastroenterology 2016
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Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.
Tadahiro Yanagi, Tatsuki Mizuochi, Yugo Takaki, Keisuke Eda, Keiichi Mitsuyama, Masataka Ishimura, Hidetoshi Takada, Dror S Shouval, Alexandra E Griffith, Scott B Snapper,[...]. BMC Gastroenterol 2016
Tadahiro Yanagi, Tatsuki Mizuochi, Yugo Takaki, Keisuke Eda, Keiichi Mitsuyama, Masataka Ishimura, Hidetoshi Takada, Dror S Shouval, Alexandra E Griffith, Scott B Snapper,[...]. BMC Gastroenterol 2016
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Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
Karin R Engelhardt, Neil Shah, Intan Faizura-Yeop, Dilara F Kocacik Uygun, Natalie Frede, Aleixo M Muise, Eyal Shteyer, Serkan Filiz, Ronnie Chee, Mamoun Elawad,[...]. J Allergy Clin Immunol 2013
Karin R Engelhardt, Neil Shah, Intan Faizura-Yeop, Dilara F Kocacik Uygun, Natalie Frede, Aleixo M Muise, Eyal Shteyer, Serkan Filiz, Ronnie Chee, Mamoun Elawad,[...]. J Allergy Clin Immunol 2013
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Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.
Zhiheng Huang, Kaiyue Peng, Xiaoqin Li, Ruiqin Zhao, Jieyu You, Xiuyong Cheng, Zhaoxia Wang, Ying Wang, Bingbing Wu, Huijun Wang,[...]. Inflamm Bowel Dis 2017
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Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Daniel Kotlarz, Rita Beier, Dhaarini Murugan, Jana Diestelhorst, Ole Jensen, Kaan Boztug, Dietmar Pfeifer, Hans Kreipe, Eva-Doreen Pfister, Ulrich Baumann,[...]. Gastroenterology 2012
Daniel Kotlarz, Rita Beier, Dhaarini Murugan, Jana Diestelhorst, Ole Jensen, Kaan Boztug, Dietmar Pfeifer, Hans Kreipe, Eva-Doreen Pfister, Ulrich Baumann,[...]. Gastroenterology 2012
36
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli,[...]. J Med Genet 2014
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli,[...]. J Med Genet 2014
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Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.
H Mao, W Yang, P P W Lee, M H-K Ho, J Yang, S Zeng, C-Y Chong, T-L Lee, W Tu, Y-L Lau. Genes Immun 2012
H Mao, W Yang, P P W Lee, M H-K Ho, J Yang, S Zeng, C-Y Chong, T-L Lee, W Tu, Y-L Lau. Genes Immun 2012
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Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
Judith R Kelsen, Noor Dawany, Christopher J Moran, Britt-Sabina Petersen, Mahdi Sarmady, Ariella Sasson, Helen Pauly-Hubbard, Alejandro Martinez, Kelly Maurer, Joanne Soong,[...]. Gastroenterology 2015
Judith R Kelsen, Noor Dawany, Christopher J Moran, Britt-Sabina Petersen, Mahdi Sarmady, Ariella Sasson, Helen Pauly-Hubbard, Alejandro Martinez, Kelly Maurer, Joanne Soong,[...]. Gastroenterology 2015
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A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Bénédicte Neven, Emilie Mamessier, Julie Bruneau, Sophie Kaltenbach, Daniel Kotlarz, Felipe Suarez, Julien Masliah-Planchon, Katy Billot, Danielle Canioni, Pierre Frange,[...]. Blood 2013
Bénédicte Neven, Emilie Mamessier, Julie Bruneau, Sophie Kaltenbach, Daniel Kotlarz, Felipe Suarez, Julien Masliah-Planchon, Katy Billot, Danielle Canioni, Pierre Frange,[...]. Blood 2013
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Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James,[...]. J Crohns Colitis 2017
Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James,[...]. J Crohns Colitis 2017
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A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.
Seak Hee Oh, Jiwon Baek, Herty Liany, Jia Nee Foo, Kyung Mo Kim, Stephen Chang-Oh Yang, Jianjun Liu, Kyuyoung Song. J Crohns Colitis 2016
Seak Hee Oh, Jiwon Baek, Herty Liany, Jia Nee Foo, Kyung Mo Kim, Stephen Chang-Oh Yang, Jianjun Liu, Kyuyoung Song. J Crohns Colitis 2016
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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Luke Jostins, Stephan Ripke, Rinse K Weersma, Richard H Duerr, Dermot P McGovern, Ken Y Hui, James C Lee, L Philip Schumm, Yashoda Sharma, Carl A Anderson,[...]. Nature 2012
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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Elizabeth A Worthey, Alan N Mayer, Grant D Syverson, Daniel Helbling, Benedetta B Bonacci, Brennan Decker, Jaime M Serpe, Trivikram Dasu, Michael R Tschannen, Regan L Veith,[...]. Genet Med 2011
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Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.
Yuan Xiao, Xin-Qiong Wang, Yi Yu, Yan Guo, Xu Xu, Ling Gong, Tong Zhou, Xiao-Qin Li, Chun-Di Xu. World J Gastroenterol 2016
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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco,[...]. J Clin Immunol 2018
Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco,[...]. J Clin Immunol 2018
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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
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Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang,[...]. Gastroenterology 2020
Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang,[...]. Gastroenterology 2020
22
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Yaron Avitzur, Conghui Guo, Lucas A Mastropaolo, Ehsan Bahrami, Hannah Chen, Zhen Zhao, Abdul Elkadri, Sandeep Dhillon, Ryan Murchie, Ramzi Fattouh,[...]. Gastroenterology 2014
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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
Katrina M de Lange, Loukas Moutsianas, James C Lee, Christopher A Lamb, Yang Luo, Nicholas A Kennedy, Luke Jostins, Daniel L Rice, Javier Gutierrez-Achury, Sun-Gou Ji,[...]. Nat Genet 2017
Katrina M de Lange, Loukas Moutsianas, James C Lee, Christopher A Lamb, Yang Luo, Nicholas A Kennedy, Luke Jostins, Daniel L Rice, Javier Gutierrez-Achury, Sun-Gou Ji,[...]. Nat Genet 2017
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Infant colitis--it's in the genes.
Erik-Oliver Glocker, Natalie Frede, Mario Perro, Neil Sebire, Mamoun Elawad, Neil Shah, Bodo Grimbacher. Lancet 2010
Erik-Oliver Glocker, Natalie Frede, Mario Perro, Neil Sebire, Mamoun Elawad, Neil Shah, Bodo Grimbacher. Lancet 2010
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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
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Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease.
Omer F Beser, Cecilia Dominguez Conde, Nina K Serwas, Fügen Cullu Cokugras, Tufan Kutlu, Kaan Boztug, Tulay Erkan. J Pediatr Gastroenterol Nutr 2015
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Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Dhaarini Murugan, Michael H Albert, Jörg Langemeier, Jens Bohne, Jacek Puchalka, Päivi M Järvinen, Fabian Hauck, Anne K Klenk, Christine Prell, Stephanie Schatz,[...]. J Clin Immunol 2014
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ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents.
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Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification.
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Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara,[...]. J Clin Immunol 2017
Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara,[...]. J Clin Immunol 2017
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Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Qi Li, Cheng Hiang Lee, Lauren A Peters, Lucas A Mastropaolo, Cornelia Thoeni, Abdul Elkadri, Tobias Schwerd, Jun Zhu, Bin Zhang, Yongzhong Zhao,[...]. Gastroenterology 2016
Qi Li, Cheng Hiang Lee, Lauren A Peters, Lucas A Mastropaolo, Cornelia Thoeni, Abdul Elkadri, Tobias Schwerd, Jun Zhu, Bin Zhang, Yongzhong Zhao,[...]. Gastroenterology 2016
13
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Walter H A Kahr, Fred G Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W Lo, Ling Li, Ren Li, Qi Li,[...]. Nat Commun 2017
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13
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
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13
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
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Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Jerzy Ostrowski, Agnieszka Paziewska, Izabella Lazowska, Filip Ambrozkiewicz, Krzysztof Goryca, Maria Kulecka, Tomasz Rawa, Jakub Karczmarski, Michalina Dabrowska, Natalia Zeber-Lubecka,[...]. Sci Rep 2016
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13
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Jimmy Z Liu, Suzanne van Sommeren, Hailiang Huang, Siew C Ng, Rudi Alberts, Atsushi Takahashi, Stephan Ripke, James C Lee, Luke Jostins, Tejas Shah,[...]. Nat Genet 2015
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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Darrell L Dinwiddie, Julia M Bracken, Julie A Bass, Kathy Christenson, Sarah E Soden, Carol J Saunders, Neil A Miller, Vivekanand Singh, David L Zwick, Charles C Roberts,[...]. Genomics 2013
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Clinical and genetic characteristics of XIAP deficiency in Japan.
Xi Yang, Hirokazu Kanegane, Naonori Nishida, Toshihiko Imamura, Kazuko Hamamoto, Ritsuko Miyashita, Kohsuke Imai, Shigeaki Nonoyama, Kazunori Sanayama, Akiko Yamaide,[...]. J Clin Immunol 2012
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13
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Claire Aguilar, Christelle Lenoir, Nathalie Lambert, Bernadette Bègue, Nicole Brousse, Danielle Canioni, Dominique Berrebi, Maryline Roy, Stéphane Gérart, Helen Chapel,[...]. J Allergy Clin Immunol 2014
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13
Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.
Dror S Shouval, Christen L Ebens, Ryan Murchie, Katelyn McCann, Raja Rabah, Christoph Klein, Aleixo M Muise, Scott B Snapper. J Pediatr Gastroenterol Nutr 2016
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14
Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.
Scott W Canna, Charlotte Girard, Louise Malle, Adriana de Jesus, Neil Romberg, Judith Kelsen, Lea F Surrey, Pierre Russo, Andrew Sleight, Eduardo Schiffrin,[...]. J Allergy Clin Immunol 2017
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13
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
James J Ashton, Gaia Andreoletti, Tracy Coelho, Rachel Haggarty, Akshay Batra, Nadeem A Afzal, R Mark Beattie, Sarah Ennis. Inflamm Bowel Dis 2016
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Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
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13
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Tobias Schwerd, Sumeet Pandey, Huei-Ting Yang, Katrin Bagola, Elisabeth Jameson, Jonathan Jung, Robin H Lachmann, Neil Shah, Smita Y Patel, Claire Booth,[...]. Gut 2017
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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Bernice Lo, Kejian Zhang, Wei Lu, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M Fritz, Rebecca Marsh,[...]. Science 2015
Bernice Lo, Kejian Zhang, Wei Lu, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M Fritz, Rebecca Marsh,[...]. Science 2015
13
Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.
Jung Ok Shim, Jeong Kee Seo. J Hum Genet 2014
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13
Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.
Bénédicte Pigneur, Johanna Escher, Mamoun Elawad, Rosa Lima, Stephan Buderus, Jaroslaw Kierkus, Graziella Guariso, Danielle Canioni, Karen Lambot, Cécile Talbotec,[...]. Inflamm Bowel Dis 2013
Bénédicte Pigneur, Johanna Escher, Mamoun Elawad, Rosa Lima, Stephan Buderus, Jaroslaw Kierkus, Graziella Guariso, Danielle Canioni, Karen Lambot, Cécile Talbotec,[...]. Inflamm Bowel Dis 2013
13
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
Rebecca A Marsh, Kanchan Rao, Prakash Satwani, Kai Lehmberg, Ingo Müller, Dandan Li, Mi-Ok Kim, Alain Fischer, Sylvain Latour, Petr Sedlacek,[...]. Blood 2013
Rebecca A Marsh, Kanchan Rao, Prakash Satwani, Kai Lehmberg, Ingo Müller, Dandan Li, Mi-Ok Kim, Alain Fischer, Sylvain Latour, Petr Sedlacek,[...]. Blood 2013
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IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Christopher J Moran, Thomas D Walters, Cong-Hui Guo, Subra Kugathasan, Christoph Klein, Dan Turner, Victorien M Wolters, Robert H Bandsma, Marialena Mouzaki, Mary Zachos,[...]. Inflamm Bowel Dis 2013
Christopher J Moran, Thomas D Walters, Cong-Hui Guo, Subra Kugathasan, Christoph Klein, Dan Turner, Victorien M Wolters, Robert H Bandsma, Marialena Mouzaki, Mary Zachos,[...]. Inflamm Bowel Dis 2013
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Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
Bernadette Begue, Julien Verdier, Frédéric Rieux-Laucat, Olivier Goulet, Alain Morali, Danielle Canioni, Jean-Pierre Hugot, Cécile Daussy, Virginie Verkarre, Bénédicte Pigneur,[...]. Am J Gastroenterol 2011
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13
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.